title: A splicing mutation (891+4A-->G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family.
authors.affiliation: Department of Medicine C and the Genetic Institute, Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Pras
authors.forename: E
authors.initials: E
authors.lastname: Golomb
authors.forename: C
authors.initials: C
authors.lastname: Drake
authors.forename: I
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: G
authors.initials: G
authors.lastname: Katz
authors.forename: D L
authors.initials: DL
authors.lastname: Kastner
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D026923:Amino Acid Transport Systems, Basic; D018912:Arabs; D002352:Carrier Proteins / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics* / Q000652:urine; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007514:Islam; D007557:Israel; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human; D004247:DNA